A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs10) is associated to Weiss-Kruszka syndrome. A case report
González-Tarancón, R, Salvador-Rupérez, E, Miramar Gallart, M D, Barroso, E, Díez García-Prieto, I, Pérez Delgado, R, López Pisón, J, García Jiménez, M C
Published in Acta clinica belgica (English ed. Online) (01.02.2022)
Published in Acta clinica belgica (English ed. Online) (01.02.2022)
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Journal Article
Genetic counseling in prostate cancer: How to implement it in daily clinical practice?
Borque-Fernando, A, Espílez, R, Miramar, D, Corbatón, D, Rodríguez, A, Castro, E, Mateo, J, Rello, L, Méndez, A, Gil Sanz, M J
Published in Actas urológicas españolas (English ed.) (01.01.2021)
Published in Actas urológicas españolas (English ed.) (01.01.2021)
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Journal Article
Genetic counseling in prostate cancer: How to implement it in daily clinical practice?
Borque-Fernando, A., Espílez, R., Miramar, D., Corbatón, D., Rodríguez, A., Castro, E., Mateo, J., Rello, L., Méndez, A., Gil Sanz, M.J.
Published in Actas urológicas españolas (English ed.) (01.01.2021)
Published in Actas urológicas españolas (English ed.) (01.01.2021)
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Journal Article
Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1
Miramar, M. D., Calvo, M. T., Rodriguez, A., Antón, A., Lorente, F., Barrio, E., Herrero, A., Burriel, J., García de Jalón, A.
Published in Breast cancer research and treatment (01.11.2008)
Published in Breast cancer research and treatment (01.11.2008)
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Journal Article
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene
Tavera-Tapia, A., Pérez-Cabornero, L., Macías, J. A., Ceballos, M. I., Roncador, G., de la Hoya, M., Barroso, A., Felipe-Ponce, V., Serrano-Blanch, R., Hinojo, C., Miramar-Gallart, M. D., Urioste, M., Caldés, T., Santillan-Garzón, S., Benitez, J., Osorio, A.
Published in Breast cancer research and treatment (01.02.2017)
Published in Breast cancer research and treatment (01.02.2017)
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Journal Article
Phenotype in patients with intellectual disability and pathological results in array CGH
Caballero Pérez, V, López Pisón, F J, Miramar Gallart, M D, González Álvarez, A, García Jiménez, M C, García Iñiguez, J P, Orden Rueda, C, Gil Hernández, I, Fuertes Rodrigo, C, Fernando Martínez, R, Rodríguez Valle, A, Alcaine Villarroya, M J
Published in Neurologia (Barcelona, Spain) (01.11.2017)
Published in Neurologia (Barcelona, Spain) (01.11.2017)
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Journal Article
Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)
Andrés, R., Pajares, I., Balmaña, J., Llort, G., Ramón y Cajal, T., Chirivella, I., Aguirre, E., Robles, L., Lastra, E., Pérez-Segura, P., Bosch, N., Yagüe, C., Lerma, E., Godino, J., Miramar, M. D., Moros, M., Astier, P., Saez, B., Vidal, M. J., Arcusa, A., Ramón y Cajal, S., Calvo, M. T., Tres, A.
Published in Clinical & translational oncology (01.03.2014)
Published in Clinical & translational oncology (01.03.2014)
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Journal Article
NADH Oxidase Activity of Mitochondrial Apoptosis-inducing Factor
Miramar, M. Dolores, Costantini, Paola, Ravagnan, Luigi, Saraiva, Ligia M., Haouzi, Delphine, Brothers, Greg, Penninger, Josef M., Peleato, M. Luisa, Kroemer, Guido, Susin, Santos A.
Published in The Journal of biological chemistry (11.05.2001)
Published in The Journal of biological chemistry (11.05.2001)
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Journal Article
Asesoramiento genético en cáncer de próstata: ¿cómo implementarlo en la práctica clínica diaria?
Borque-Fernando, A., Espílez, R., Miramar, D., Corbatón, D., Rodríguez, A., Castro, E., Mateo, J., Rello, L., Méndez, A., Gil Sanz, M.J.
Published in Actas urologicas españolas (01.01.2021)
Published in Actas urologicas españolas (01.01.2021)
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Journal Article
Prader-Willi and Angelman syndromes: 21 years of experience
Royo Pérez, D, Monge Galindo, L, López Pisón, J, Pérez Delgado, R, Lafuente Hidalgo, M, Peña Segura, J L, Miramar Gallart, M D, Rodriguez Valle, A, Calvo Martín, M T
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2012)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2012)
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Journal Article
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults
Roche Bueno, J C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M D, Solera García, J
Published in Neurologia (Barcelona, Spain) (01.06.2018)
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Published in Neurologia (Barcelona, Spain) (01.06.2018)
Journal Article
Repercusión clínica de la traslocación t(7;15) (p22;q26) en varios miembros de una misma familia
Caballero Pérez, Victoria, López-Pisón, Francisco Javier, Miramar Gallart, María Dolores, González Álvarez, Alejandro, García Jiménez, María Concepción
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2017)
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Journal Article
Nueva variante probablemente patogénica c.1249A>C en el exón 7 del gen GAA asociada a la enfermedad de Pompe del adulto
Roche Bueno, J.C, Arcos Sánchez, C, Salgado Álvarez de Sotomayor, F, Izquierdo-Álvarez, S, Miramar Gallart, M.D, Solera García, J
Published in Neurología (Barcelona, Spain) (01.06.2018)
Published in Neurología (Barcelona, Spain) (01.06.2018)
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Journal Article
Síndromes de Prader-Willi y de Angelman. Expriencia de 21 años
Royo Pérez, D, Monge Galindo, L, López Pisón, J, Pérez Delgado, R, Lafuente Hidalgo, M, Peña Segura, J.L, Miramar Gallart, M.D, Rodriguez Valle, A, Calvo Martín, M.T
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2012)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.09.2012)
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Journal Article